Variant report

Variant	rs3024948
Chromosome Location	chr12:57502753-57502754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:57502727-57502909	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
STAT6	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10467125	0.96[ASN][1000 genomes]
rs11172112	0.96[ASN][1000 genomes]
rs12307379	0.96[ASN][1000 genomes]
rs12721590	1.00[ASN][1000 genomes]
rs3024950	1.00[ASN][1000 genomes]
rs3024961	0.82[ASN][1000 genomes]
rs3024963	0.88[ASN][1000 genomes]
rs34484591	0.91[EUR][1000 genomes]
rs35182390	0.91[EUR][1000 genomes]
rs36234207	0.96[ASN][1000 genomes]
rs36234211	0.96[ASN][1000 genomes]
rs7306742	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57486200-57503600	Weak transcription	Fetal Brain Male	brain
2	chr12:57486600-57503800	Weak transcription	Brain Substantia Nigra	brain
3	chr12:57487600-57503600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:57489000-57503600	Weak transcription	Brain Angular Gyrus	brain
5	chr12:57490000-57503800	Weak transcription	NH-A	brain
6	chr12:57490000-57504000	Weak transcription	Brain Germinal Matrix	brain
7	chr12:57490400-57503400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:57493000-57503200	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:57493000-57503400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:57493400-57503200	Weak transcription	HUVEC	blood vessel
11	chr12:57494000-57504000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:57496600-57503200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:57496800-57504000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:57497600-57502800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:57497600-57503200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:57497800-57503200	Strong transcription	NHEK	skin
17	chr12:57498000-57502800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:57498400-57503000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:57498400-57503800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:57499600-57502800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:57499800-57502800	Genic enhancers	Primary T cells from cord blood	blood
22	chr12:57499800-57503400	Weak transcription	HSMMtube	muscle
23	chr12:57500000-57502800	Genic enhancers	Duodenum Mucosa	Duodenum
24	chr12:57500400-57503600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:57500600-57503600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:57500800-57503200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:57500800-57503200	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr12:57500800-57503600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:57500800-57503600	Weak transcription	Left Ventricle	heart
30	chr12:57500800-57503600	Enhancers	K562	blood
31	chr12:57501000-57503000	Weak transcription	Fetal Kidney	kidney
32	chr12:57501000-57503200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:57501000-57503200	Weak transcription	Brain Anterior Caudate	brain
34	chr12:57501200-57503000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr12:57501200-57503400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:57501200-57503400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:57501400-57502800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:57501400-57503200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:57501400-57503200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:57501600-57503000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:57501600-57503200	Genic enhancers	Monocytes-CD14+_RO01746	blood
42	chr12:57501600-57503400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:57501600-57503400	Genic enhancers	Primary monocytes fromperipheralblood	blood
44	chr12:57501600-57503600	Enhancers	Stomach Mucosa	stomach
45	chr12:57501800-57503200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr12:57501800-57503200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:57501800-57503200	Weak transcription	Fetal Lung	lung
48	chr12:57501800-57503200	Weak transcription	Hela-S3	cervix
49	chr12:57501800-57503400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:57501800-57503400	Weak transcription	Pancreas	Pancrea

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